Varaico: Literature-Extracted Genetic Variants

KRIT1

475 papers

RefSeq Summary

This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. ...

Pfam Domains

NUDIX_5aa 22–198UCSCNUDIX, or N-terminal NPxY motif-rich, region of KRIT

Ankaa 320–353UCSCAnkyrin repeat

Ankaa 355–387UCSCAnkyrin repeat

FERM_Maa 517–640UCSCFERM central domain

KRIT1_FRMD8_FERM_Caa 656–721UCSCKRIT1/FRMD8, FERM domain C-lobe

Gene Aliases

HGNC Name

KRIT1 ankyrin repeat containing

HGNC Previous Symbol

CCM1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_194454.3

p.S467S

c.1401A>G

Surrounding Variants

1 paper

NM_194454.3

p.S467insFs

c.1399_1400insA

10 papers

NM_194454.3

p.C466delFs

c.1396delA

2 papers

NM_194454.3

p.N469H

c.1405A>C

1 paper

NM_194454.3

p.C466fs

c.1396_1397fs

2 papers

NM_194454.3

p.W464*

c.1392G>A

3 papers

NM_194454.3

p.W464*

c.1391G>A

1 paper

NM_194454.3

p.S471Splc

c.1411+3A>T

1 paper

NM_194454.3

p.Q458_Q459insFs

c.1374_1375insC

2 papers

NM_194454.3

p.Q455fs

c.1363_1364fs

10 papers

NM_194454.3

p.S454_Q455delFs

c.1362_1363delGA

2 papers

NM_194454.3

p.S454_Q455delFs

c.1360_1363del4

39 papers

NM_194454.3

p.Q455*

c.1363C>T